NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002436999.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly)]

NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly)

HGVS:

NC_000001.11:g.45333477G>C
NG_008189.1:g.11994C>G
NM_001048171.2:c.200C>G
NM_001048172.2:c.203C>G
NM_001048173.2:c.200C>G
NM_001048174.2:c.200C>GMANE SELECT
NM_001128425.2:c.284C>G
NM_001293190.2:c.245C>G
NM_001293191.2:c.233C>G
NM_001293192.2:c.-77C>G
NM_001293195.2:c.200C>G
NM_001293196.2:c.-77C>G
NM_001350650.2:c.-72C>G
NM_001350651.2:c.-72C>G
NM_012222.3:c.275C>G
NP_001041636.2:p.Ala67Gly
NP_001041637.1:p.Ala68Gly
NP_001041638.1:p.Ala67Gly
NP_001041639.1:p.Ala67Gly
NP_001121897.1:p.Ala95Gly
NP_001280119.1:p.Ala82Gly
NP_001280120.1:p.Ala78Gly
NP_001280124.1:p.Ala67Gly
NP_036354.1:p.Ala92Gly
LRG_220t1:c.284C>G
LRG_220:g.11994C>G
NC_000001.10:g.45799149G>C
NM_001128425.1:c.284C>G
NR_146882.2:n.428C>G
NR_146883.2:n.351C>G

Protein change:

A67G

Links:

dbSNP: rs1645363196

NCBI 1000 Genomes Browser:

rs1645363196

Molecular consequence:

NM_001293192.2:c.-77C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293196.2:c.-77C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350650.2:c.-72C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350651.2:c.-72C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048171.2:c.200C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.203C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.200C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.200C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.284C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.245C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.233C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.200C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.275C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.428C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.351C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002749850	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749850

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 12, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002749850.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.A95G variant (also known as c.284C>G), located in coding exon 3 of the MUTYH gene, results from a C to G substitution at nucleotide position 284. The alanine at codon 95 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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